Marfan Syndrome

Introduction

On your exam of a new patient, a 12-year-old girl, you hear a diastolic murmur in left upper sternal border as well as a mid-systolic click with late systolic murmur. You also notice she has long, thin limbs and a positive thumb sign and wrist sign. What further evaluation would you perform?

The above case is representative of Marfan Syndrome (MFS), and given the incidence, it is important for general pediatricians to be aware of the common features and management.

Evaluation and Diagnostic Criteria

Based on the degree of aortic root dissection (Z-score calculator available at http://www.marfan.org/dx/zscore), presence of ectopia lentis, family history of MFS, and systemic score based on phenotypic traits.

It can be challenging to apply diagnostic criteria to children < 20 years as some disease features are not yet present and become more apparent with age.

Additional categories of “nonspecific connective tissue disorder” and “potential MFS” can be used for those children without clear inclusion criteria.

Mangement

Aortic disease is the most common cause of morbidity and mortality for patients with Marfan syndrome.

Aortic monitoring begins with echocardiogram performed at the time of diagnosis and 6 months later to determine aortic root and diameter size and rate of enlargement (2010 ACC/AHA/AATS)

With evidence of progressive aortic root dilation, beta-blockers should be prescribed as they help decrease wall stress (e.g., propranolol, atenolol, metoprolol), although efficacy in children has limited data.

Addition of an angiotensin II receptor blocker (e.g., losartan) to slow the progression of aortic root dilation may be beneficial, though clinical data is limited

Signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and progression. Therefore, regular exams are important for surveillance and intervention

Annual ophthalmologic examination for myopia and lens dislocation (especially as young children as they are at high risk for amblyopia)